메뉴 건너뛰기




Volumn 107, Issue 1, 2006, Pages 349-354

Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)

Author keywords

[No Author keywords available]

Indexed keywords

NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; RECOMBINANT ERYTHROPOIETIN;

EID: 30144443274     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-06-2477     Document Type: Article
Times cited : (131)

References (22)
  • 1
    • 0030763856 scopus 로고    scopus 로고
    • Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene
    • Fleming MD, Trenor CC, Su MA, et al. Microcytic anemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet. 1997;16:383-386.
    • (1997) Nat Genet , vol.16 , pp. 383-386
    • Fleming, M.D.1    Trenor, C.C.2    Su, M.A.3
  • 2
    • 0032477866 scopus 로고    scopus 로고
    • Nramp2 is mutated in the anemic Begrade (b) rat: Evidence of a role for Nramp2 in endosomal iron transport
    • U S A
    • Fleming MD, Romano MA, Su MA, Garrick LM, Andrews NC. Nramp2 is mutated in the anemic Begrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A. 1998;95:1148-1153.
    • (1998) Proc Natl Acad Sci , vol.95 , pp. 1148-1153
    • Fleming, M.D.1    Romano, M.A.2    Su, M.A.3    Garrick, L.M.4    Andrews, N.C.5
  • 3
    • 0030755366 scopus 로고    scopus 로고
    • Cloning and characterization of a mammalian proton-coupled metal-ion transporter
    • Gunshin H, Mackenzie B, Berger UV, et al. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature. 1997;388:482-487.
    • (1997) Nature , vol.388 , pp. 482-487
    • Gunshin, H.1    Mackenzie, B.2    Berger, U.V.3
  • 4
    • 0033564656 scopus 로고    scopus 로고
    • Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron
    • Cannone-Hergaux S, Gruenheid S, Ponka P, Gros P. Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. Blood. 1999;93:4406-4417.
    • (1999) Blood , vol.93 , pp. 4406-4417
    • Cannone-Hergaux, S.1    Gruenheid, S.2    Ponka, P.3    Gros, P.4
  • 5
    • 0032530922 scopus 로고    scopus 로고
    • The G185R mutation disrupts function of the iron transporter Nramp2
    • Su M, Trenor CC, Fleming JC, Fleming MD, Andrews NC. The G185R mutation disrupts function of the iron transporter Nramp2. Blood. 1998;92:2157-2163.
    • (1998) Blood , vol.92 , pp. 2157-2163
    • Su, M.1    Trenor, C.C.2    Fleming, J.C.3    Fleming, M.D.4    Andrews, N.C.5
  • 6
    • 4444227596 scopus 로고    scopus 로고
    • Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia
    • Touret N, Martin-Orozco N, Paroutis P, et al. Molecular and cellular mechanisms underlying iron transport deficiency in microcytic anemia. Blood. 2004;104:1526-1533
    • (2004) Blood , vol.104 , pp. 1526-1533
    • Touret, N.1    Martin-Orozco, N.2    Paroutis, P.3
  • 7
    • 0035895096 scopus 로고    scopus 로고
    • Characterization of the iron transporter DMT1 (Nramp2/DCT1) in red blood cells of normal and anaemic mk/mk mice
    • Cannone-Hergaux S, Zhang AS, Ponka P, Gros P. Characterization of the iron transporter DMT1 (Nramp2/DCT1) in red blood cells of normal and anaemic mk/mk mice. Blood. 2001;98:3823-3830.
    • (2001) Blood , vol.98 , pp. 3823-3830
    • Cannone-Hergaux, S.1    Zhang, A.S.2    Ponka, P.3    Gros, P.4
  • 8
    • 2342447226 scopus 로고    scopus 로고
    • Severe hypochromic microcytic anemia caused by a congenital defect of the iron transporter pathway in erythroid cells
    • Priwitzerova M, Pospisilova D, Prchal JT, et al. Severe hypochromic microcytic anemia caused by a congenital defect of the iron transporter pathway in erythroid cells. Blood. 2004;103:3991-3992.
    • (2004) Blood , vol.103 , pp. 3991-3992
    • Priwitzerova, M.1    Pospisilova, D.2    Prchal, J.T.3
  • 9
    • 12844260664 scopus 로고    scopus 로고
    • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
    • Mims MP, Guan Y, Pospisilova D, et al. Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood. 2005;105:1337-1342.
    • (2005) Blood , vol.105 , pp. 1337-1342
    • Mims, M.P.1    Guan, Y.2    Pospisilova, D.3
  • 10
    • 0034584616 scopus 로고    scopus 로고
    • Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis
    • Tchernia G, Delhommeau F, Perrotta S, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J. 2000;1:146-152.
    • (2000) Hematol J , vol.1 , pp. 146-152
    • Tchernia, G.1    Delhommeau, F.2    Perrotta, S.3
  • 11
    • 0000161330 scopus 로고    scopus 로고
    • Liver iron susceptometry
    • Andrae W, Nowak H, eds. Berlin, Germany: Wiley-VHC
    • Fischer R. Liver iron susceptometry. In: Andrae W, Nowak H, eds. Magnetism in Medicine - a Handbook. Berlin, Germany: Wiley-VHC; 1998:286-301.
    • (1998) Magnetism in Medicine - A Handbook , pp. 286-301
    • Fischer, R.1
  • 12
    • 0020465049 scopus 로고
    • Magnetic-susceptibility measurement of human iron stores
    • Brittenham GM, Farrell DE, Harris JW, et al. Magnetic-susceptibility measurement of human iron stores. N Engl J Med. 1982;307:1671-1675.
    • (1982) N Engl J Med , vol.307 , pp. 1671-1675
    • Brittenham, G.M.1    Farrell, D.E.2    Harris, J.W.3
  • 13
    • 0034601375 scopus 로고    scopus 로고
    • Hepatic iron concentration and total body iron stores in thalassemia major
    • Angelucci E, Brittenham GM, McLaren CE, et al. Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med. 2000;343:327-331.
    • (2000) N Engl J Med , vol.343 , pp. 327-331
    • Angelucci, E.1    Brittenham, G.M.2    McLaren, C.E.3
  • 14
    • 0024556046 scopus 로고
    • Hepato-cellular transferrin receptor expression in secondary siderosis
    • Sciot R, van Eyken P, Facchetti F, et al. Hepato-cellular transferrin receptor expression in secondary siderosis. Liver. 1989;9:52-61.
    • (1989) Liver , vol.9 , pp. 52-61
    • Sciot, R.1    Van Eyken, P.2    Facchetti, F.3
  • 16
    • 0032959574 scopus 로고    scopus 로고
    • Transferrin receptor is necessary for development of erythrocytes and the nervous system
    • Levy JE, Jin O, Fujiwara Y, et al. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat Genet. 1999;21:396-399.
    • (1999) Nat Genet , vol.21 , pp. 396-399
    • Levy, J.E.1    Jin, O.2    Fujiwara, Y.3
  • 17
    • 0037105495 scopus 로고    scopus 로고
    • X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
    • Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos G, Orkin SH, Raskind WH. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood. 2002;100:2040-2045.
    • (2002) Blood , vol.100 , pp. 2040-2045
    • Yu, C.1    Niakan, K.K.2    Matsushita, M.3    Stamatoyannopoulos, G.4    Orkin, S.H.5    Raskind, W.H.6
  • 18
    • 0032104739 scopus 로고    scopus 로고
    • The human Nramp2 gene: Characterization of the gene structure, alternative splicing, promoter region and polymorphisms
    • Lee PL, Gelbart T, West C, Halloran C, Beutler E. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. Blood Cells Mol Dis. 1998;24:199-215.
    • (1998) Blood Cells Mol Dis , vol.24 , pp. 199-215
    • Lee, P.L.1    Gelbart, T.2    West, C.3    Halloran, C.4    Beutler, E.5
  • 20
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Carteggi L, Chew S, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Carteggi, L.1    Chew, S.2    Krainer, A.R.3
  • 21
    • 18244399587 scopus 로고    scopus 로고
    • SLC11A2 is required for intestinal absorption and erythropoiesis but dispensable in placenta and liver
    • Gunshin H, Fujiwara Y, Custodio AO, Direnzo C, Robine S, Andrews N. SLC11A2 is required for intestinal absorption and erythropoiesis but dispensable in placenta and liver. J Clin Invest. 2005;115:1258-1266.
    • (2005) J Clin Invest , vol.115 , pp. 1258-1266
    • Gunshin, H.1    Fujiwara, Y.2    Custodio, A.O.3    Direnzo, C.4    Robine, S.5    Andrews, N.6
  • 22
    • 30144441847 scopus 로고    scopus 로고
    • Consequences of DMT1 mutation on proliferation and hemoglobinization of erythroid progenitors in vitro
    • Priwitzerova M, Pospisilova D, Indrak K, Ponka P, Divoky V. Consequences of DMT1 mutation on proliferation and hemoglobinization of erythroid progenitors in vitro [abstract]. Blood. 2004;104:3190.
    • (2004) Blood , vol.104 , pp. 3190
    • Priwitzerova, M.1    Pospisilova, D.2    Indrak, K.3    Ponka, P.4    Divoky, V.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.